| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 7 | g.19116866C>A | CA454143491 | TWIST1 | c.456G>T (p.Ala152=) c.253G>T c.59G>T n.807G>T n.771G>T | |
| 7 | g.19116866C= | CA1692250398 | TWIST1 | c.456G= (p.Ala152=) c.253G= c.59G= n.807G= n.771G= | |
| 7 | g.19116866C>G | CA454143492 | TWIST1 | c.456G>C (p.Ala152=) c.253G>C c.59G>C n.807G>C n.771G>C | |
| 7 | g.19116866C>T | CA454143494 | TWIST1 | c.456G>A (p.Ala152=) c.253G>A c.59G>A n.807G>A n.771G>A | dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.19116867G>A | CA367015400 | TWIST1 | c.455C>T (p.Ala152Val) c.252C>T c.58C>T n.806C>T n.770C>T | ClinVar COSMIC |
| 7 | g.19116867G>C | CA367015401 | TWIST1 | c.455C>G (p.Ala152Gly) c.252C>G c.58C>G n.806C>G n.770C>G | |
| 7 | g.19116867G= | CA1692250402 | TWIST1 | c.455C= (p.Ala152=) c.252C= c.58C= n.806C= n.770C= | |
| 7 | g.19116867G>T | CA367015402 | TWIST1 | c.455C>A (p.Ala152Glu) c.252C>A c.58C>A n.806C>A n.770C>A | ClinVar dbSNP |
| 7 | g.19116869_19116891del | CA2695207470 | TWIST1 | c.433_455del (p.Lys145GlyfsTer?) c.230_252del c.36_58del n.784_806del n.748_770del | |
| 7 | g.19116868C>A | CA367015403 | TWIST1 | c.454G>T (p.Ala152Ser) c.251G>T c.57G>T n.805G>T n.769G>T | |
| 7 | g.19116868C= | CA1692250407 | TWIST1 | c.454G= (p.Ala152=) c.251G= c.57G= n.805G= n.769G= | |
| 7 | g.19116868C>G | CA367015404 | TWIST1 | c.454G>C (p.Ala152Pro) c.251G>C c.57G>C n.805G>C n.769G>C | |
| 7 | g.19116868C>T | CA4174481 | TWIST1 | c.454G>A (p.Ala152Thr) c.251G>A c.57G>A n.805G>A n.769G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.19116869C>A | CA454143495 | TWIST1 | c.453G>T (p.Leu151=) c.250G>T c.56G>T n.804G>T n.768G>T | |
| 7 | g.19116869C>G | CA454143496 | TWIST1 | c.453G>C (p.Leu151=) c.250G>C c.56G>C n.804G>C n.768G>C | |
| 7 | g.19116869C>T | CA454143497 | TWIST1 | c.453G>A (p.Leu151=) c.250G>A c.56G>A n.804G>A n.768G>A | |
| 7 | g.19116870A>C | CA367015405 | TWIST1 | c.452T>G (p.Leu151Arg) c.249T>G c.55T>G n.803T>G n.767T>G | |
| 7 | g.19116870A>G | CA367015407 | TWIST1 | c.452T>C (p.Leu151Pro) c.249T>C c.55T>C n.803T>C n.767T>C | |
| 7 | g.19116870A>T | CA367015406 | TWIST1 | c.452T>A (p.Leu151Gln) c.249T>A c.55T>A n.803T>A n.767T>A | |
| 7 | g.19116871G>A | CA454143501 | TWIST1 | c.451C>T (p.Leu151=) c.248C>T c.54C>T n.802C>T n.766C>T | gnomAD v4 |
| 7 | g.19116871G>C | CA367015408 | TWIST1 | c.451C>G (p.Leu151Val) c.248C>G c.54C>G n.802C>G n.766C>G | ClinVar dbSNP |
| 7 | g.19116871G>T | CA367015409 | TWIST1 | c.451C>A (p.Leu151Met) c.248C>A c.54C>A n.802C>A n.766C>A | |
| 7 | g.19116872C>A | CA367015410 | TWIST1 | c.450G>T (p.Lys150Asn) c.247G>T c.53G>T n.801G>T n.765G>T | |
| 7 | g.19116872C= | CA1692250411 | TWIST1 | c.450G= (p.Lys150=) c.247G= c.53G= n.801G= n.765G= | |
| 7 | g.19116872C>G | CA4174482 | TWIST1 | c.450G>C (p.Lys150Asn) c.247G>C c.53G>C n.801G>C n.765G>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.19116872C>T | CA454143502 | TWIST1 | c.450G>A (p.Lys150=) c.247G>A c.53G>A n.801G>A n.765G>A | dbSNP COSMIC |
| 7 | g.19116873T>A | CA367015411 | TWIST1 | c.449A>T (p.Lys150Met) c.246A>T c.52A>T n.800A>T n.764A>T | |
| 7 | g.19116873T>C | CA367015412 | TWIST1 | c.449A>G (p.Lys150Arg) c.246A>G c.52A>G n.800A>G n.764A>G | dbSNP |
| 7 | g.19116873T>G | CA367015413 | TWIST1 | c.449A>C (p.Lys150Thr) c.246A>C c.52A>C n.800A>C n.764A>C | |
| 7 | g.19116873T= | CA1692250414 | TWIST1 | c.449A= (p.Lys150=) c.246A= c.52A= n.800A= n.764A= | |
| 7 | g.19116874T>A | CA367015414 | TWIST1 | c.448A>T (p.Lys150Ter) c.245A>T c.51A>T n.799A>T n.763A>T | |
| 7 | g.19116874T>C | CA367015415 | TWIST1 | c.448A>G (p.Lys150Glu) c.245A>G c.51A>G n.799A>G n.763A>G | |
| 7 | g.19116874T>G | CA367015416 | TWIST1 | c.448A>C (p.Lys150Gln) c.245A>C c.51A>C n.799A>C n.763A>C | |
| 7 | g.19116875_19116886del | CA2573052854 | TWIST1 | c.437_448del (p.Ile146_Leu149del) c.234_245del c.40_51del n.788_799del n.752_763del | ClinVar dbSNP |
| 7 | g.19116875G>A | CA4174483 | TWIST1 | c.447C>T (p.Leu149=) c.244C>T c.50C>T n.798C>T n.762C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.19116875G>C | CA454143504 | TWIST1 | c.447C>G (p.Leu149=) c.244C>G c.50C>G n.798C>G n.762C>G | |
| 7 | g.19116875G= | CA1692250416 | TWIST1 | c.447C= (p.Leu149=) c.244C= c.50C= n.798C= n.762C= | |
| 7 | g.19116875G>T | CA454143503 | TWIST1 | c.447C>A (p.Leu149=) c.244C>A c.50C>A n.798C>A n.762C>A | |
| 7 | g.19116876A= | CA1692250419 | TWIST1 | c.446T= (p.Leu149=) c.243T= c.49T= n.797T= n.761T= | |
| 7 | g.19116876A>C | CA367015419 | TWIST1 | c.446T>G (p.Leu149Arg) c.243T>G c.49T>G n.797T>G n.761T>G | ClinVar dbSNP |
| 7 | g.19116876A>G | CA367015418 | TWIST1 | c.446T>C (p.Leu149Pro) c.243T>C c.49T>C n.797T>C n.761T>C | |
| 7 | g.19116876A>T | CA367015417 | TWIST1 | c.446T>A (p.Leu149His) c.243T>A c.49T>A n.797T>A n.761T>A | |
| 7 | g.19116877G>A | CA367015420 | TWIST1 | c.445C>T (p.Leu149Phe) c.242C>T c.48C>T n.796C>T n.760C>T | ClinVar dbSNP |
| 7 | g.19116877G>C | CA367015422 | TWIST1 | c.445C>G (p.Leu149Val) c.242C>G c.48C>G n.796C>G n.760C>G | |
| 7 | g.19116877G>T | CA367015421 | TWIST1 | c.445C>A (p.Leu149Ile) c.242C>A c.48C>A n.796C>A n.760C>A | |
| 7 | g.19116878G>A | CA4174484 | TWIST1 | c.444C>T (p.Thr148=) c.241C>T c.47C>T n.795C>T n.759C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.19116878G>C | CA454143512 | TWIST1 | c.444C>G (p.Thr148=) c.241C>G c.47C>G n.795C>G n.759C>G | |
| 7 | g.19116878G= | CA1692250421 | TWIST1 | c.444C= (p.Thr148=) c.241C= c.47C= n.795C= n.759C= | |
| 7 | g.19116878G>T | CA454143513 | TWIST1 | c.444C>A (p.Thr148=) c.241C>A c.47C>A n.795C>A n.759C>A | |
| 7 | g.19116879G>A | CA367015423 | TWIST1 | c.443C>T (p.Thr148Ile) c.240C>T c.46C>T n.794C>T n.758C>T | ClinVar dbSNP gnomAD v4 |